Linked Data
gnomAD v3:
8-60860960-A-G
gnomAD v4:
8-60860960-A-G
MyVariant Identifiers:
chr8:g.61773519A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.60860960A>G , CM000670.2:g.60860960A>G | GRCh38 |
| NC_000008.10:g.61773519A>G , CM000670.1:g.61773519A>G | GRCh37 |
| NC_000008.9:g.61936073A>G | NCBI36 |
| NG_007009.1:g.187181A>G , LRG_176:g.187181A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695850.1:n.841A>G | ||
| ENST00000695851.1:n.45A>G | ||
| ENST00000695853.1:c.*724A>G | ENSP00000512218.1:n.*724A>G | |
| ENST00000423902.7:c.7665A>G MANE Select | ENSP00000392028.1:p.Arg2555= | |
| ENST00000423902.6:c.7665A>G | ENSP00000392028.1:p.Arg2555= | |
| ENST00000524602.5:c.1717-1269A>G | ENSP00000437061.1:n.1717-1269A>G | |
| ENST00000531695.1:n.89A>G | ||
| ENST00000618450.1:n.57A>G | ||
| NM_001316690.1:c.1717-1269A>G | NP_001303619.1:n.1717-1269A>G | |
| NM_017780.3:c.7665A>G | NP_060250.2:p.Arg2555= | |
| XM_011517553.1:c.7755A>G | XP_011515855.1:p.Arg2585= | |
| XM_011517554.1:c.7755A>G | XP_011515856.1:p.Arg2585= | |
| XM_011517555.1:c.7752A>G | XP_011515857.1:p.Arg2584= | |
| XM_011517556.1:c.7699-1236A>G | XP_011515858.1:n.7699-1236A>G | |
| XM_011517557.1:c.5742A>G | XP_011515859.1:p.Arg1914= | |
| XM_011517558.1:c.5292A>G | XP_011515860.1:p.Arg1764= | |
| XM_011517559.1:c.4500A>G | XP_011515861.1:p.Arg1500= | |
| XM_011517553.2:c.7755A>G | XP_011515855.1:p.Arg2585= | |
| XM_011517554.3:c.7755A>G | XP_011515856.1:p.Arg2585= | |
| XM_011517555.2:c.7752A>G | XP_011515857.1:p.Arg2584= | |
| XM_017013612.1:c.7755A>G | XP_016869101.1:p.Arg2585= | |
| XM_017013613.1:c.7662A>G | XP_016869102.1:p.Arg2554= | |
| NM_017780.4:c.7665A>G MANE Select | NP_060250.2:p.Arg2555= |